IMD15
MCID: IMM063
MIFTS: 21
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Immunodeficiency 15 (IMD15)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency 15:
Characteristics:Orphanet epidemiological data:59
severe combined immunodeficiency due to ikk2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy early death without bone marrow transplantation four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) HPO:32
immunodeficiency 15:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Blood diseases Immune diseases
ICD10:
34
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OMIM
:
57
Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013). (615592)
MalaCards based summary : Immunodeficiency 15, is also known as imd15. An important gene associated with Immunodeficiency 15 is IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta). Affiliated tissues include t cells, b cells and bone, and related phenotypes are failure to thrive and immunodeficiency UniProtKB/Swiss-Prot : 75 Immunodeficiency 15: An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615592Human phenotypes related to Immunodeficiency 15:32
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Interventional clinical trials:
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MalaCards organs/tissues related to Immunodeficiency 15:41
T Cells,
B Cells,
Bone,
Bone Marrow,
Nk Cells
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ClinVar genetic disease variations for Immunodeficiency 15:6 (show top 50) (show all 54)
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Search
GEO
for disease gene expression data for Immunodeficiency 15.
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